Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Fano, Virginia; Kim, Chong A.; Rosselli, Pablo; Dib, Regina El; Shediac, Renée; Magalhães, Tatiana; Mesojedovas, Debora; Llerena, Juan

doi:10.1186/s13023-021-02142-3

Orphanet Journal of Rare Diseases

Table 1 LATAM ACH studies evaluating patient-important or economic burden outcomes not accountable for the meta-analysis

From: Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Author, year	South or Central America	LATAM country	Scenario	# of patients	Age, Mean (SD), y	Female, %	BMI, Mean (SD)	Exclusion criteria	Individual and/or population outcomes	Type of burden outcomes	Specify outcomes
Case series studies
Cervantes [35]	Central America	Mexico	Rehabilitation service of the National Institute of Pediatrics	7	9	42.85	NR	Patients with previous lumbar spine instrumentation, patients with abdominal skin lesions, patients undergoing surgical procedures and abdominal exercises one month before the proposed date for starting physiotherapy	Individual	Spinal issues including stenosis, compression and associated pain	Patients received electrotherapy and spinal flexion exercises with an average of 18 therapy sessions for the correction of lumbar hyperlordosis
Dantas and Medeiros [26]	South America	Brazil	Medical Genetics Service at Alcides Carneiro University Hospital, Federal University of Campinas Grande	NR	NR	NR	NR	NR	Individual	Quality of life	QoL
										Others	Endocrinological data
										Nervous system disorders	Neurological problems
Cross-sectional studies
Barbosa-Buck et al.^£ [6]	South America	Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Uruguay and Venezuela	Hospitals from nine South American countries	68	NR	NR	NR	NR	Individual	Premature mortality	Perinatal mortality
Barbosa-Buck et al.^£ [6]	South America		Hospitals from nine South American countries	68	NR	NR	NR	NR	Individual	Perinatal complications	Premature birth
Cervan et al.^£ [24]	South America	Brazil	Small People Association of Brazil (AGPB)	21	32.70 (11.18)	61.90	33 (6.96)	NR	Individual	Quality of life	Physical; psychological; social; environmental
Gomez et al. [58]	South America	Colombia	Leather Design and Manufacturing Center	8	NR	NR	NR	NR	Population	Environmental burden	Adaptation of shoes, health economic impact
Lima [38]	South America	Brazil	Previously agreed location in the city of Sao Paulo	7	NR	14.28	NR	NR	Population	Psychological impact	Humiliation; stigma, recognition
Lima [38]	South America	Brazil	Previously agreed location in the city of Sao Paulo	7	NR	14.28	NR	NR	Population	Socioeconomic burden	Labor market
Rocha and Wagner [69]	South America	Brazil	NR	8	NR	NR	NR	NR	Individual / Population	Orthopedic complications	Joint mobility
										Psychosocial complications	Perception of their psychosocial life
										Environmental burden	Challenges in physical activity
Case report studies
Abrão et al. [39]	South America	Brazil	NR	1	29	Female	95.18	NR	Individual	Cardio-respiratory-metabolic disorders; and spinal issues including stenosis, compression and associated pain, and others	Use of a bronchofibroscope
Arlet et al. [41]	Central America	Mexico	Orthopedic Clinic, Benemérita Universidad Autónoma de Puebla	1	8	Female	NR	NR	Individual	Others	Horizontal overlap and crossbite
Benavides et al., 2018 [42]	South America	Colombia	NR	1	23	Female	36.76	NR	Individual	Pregnant patient Cardio-respiratory-metabolic disorders	Obesity, difficulty airway, difficulty ventilation and intubation, postoperative pulmonary complications, and cardiovascular complications such as risk of pulmonary hypertension crisis, acute heart failure, perioperative myocardial infarction during general anesthesia
Benavides et al., 2018 [42]	South America	Colombia	NR	1	23	Female	36.76	NR	Individual	Spinal issues including stenosis, compression and associated pain	Neck instability and risk of spinal cord compression with neck, hyperextension, and difficult spinal and epidural puncture during regional anesthesia
Calderón et al. [43]	Central America	Cuba	University polyclinic “Ana Betancourt”	1	25	Female	NR	NR	NA^$	NA^$	NA^$
Carbia et al.^¢ [44]	South America	Argentina	Clinical Medical and Dermatology Divisions, Hospital "José María Ramos Mejía". Buenos Aires	1	83	Female	NR	NR	Individual	Others	Cicatricial metastasis as the presenting sign of squamous cell esophagus carcinoma
Carmen et al. [46]	South America	Chile	Obstetrics Service of the Ambato Regional Teaching Hospital	1	29	Female	27.54	NR	Individual	Pregnant patient Perinatal complications	Moderate anemia and cholecystitis
Carolina et al. [47]	South America	Chile	NR	1	1.10	Female	NR	NR	Individual	Spinal issues including stenosis, compression and associated pain Nervous system disorders	Aqueductal stenosis with symptomatic spinal cord compression
Carolina et al. [47]	South America	Chile	NR	1	1.10	Female	NR	NR	Individual		Hydrocephalus
Castro [48]	South America	Brazil	Methodist University of Piracicaba (UNIMEP)	1	28	Female	28.47	NR	Individual / Population	Pain	Complaints of lower back and leg pain after a period of walking and low back pain caused by hyperlordosis
										Orthopedic complications	Varus foot
										Environmental burden	Difficulty getting on the bus because of the distance from the sidewalk to the step and the height of the steps
Eusebio and Vidal [55]	Central America	Dominican Republic	NR	1	4	Female	NR	NR	Individual	Spinal issues including stenosis, compression and associated pain Orthopedic complications	Lumbar hyperlordosis
Eusebio and Vidal [55]	Central America	Dominican Republic	NR	1	4	Female	NR	NR	Individual		Bilateral femoral elongation surgery
Frade et al. [57]	South America	Brazil	University Hospital of Brasilia	1	0.1*	Female	18.5	NR	Individual	Perinatal complications	Needed positive pressure ventilation during birth, and during hospitalization, jaundice occurred
Galego et al. [27]	South America	Brazil	NR	1	32	Female	41.6	NR	Individual	Pregnant patient Perinatal complications	Emergency cesarean section due to umbilical cord prolapse
Hernández-Motiño et al. [59]	Central America	Mexico	Children's Hospital of Mexico Federico Gómez	1	5	Female	NR	NR	Individual	Cardio-respiratory-metabolic	Pulmonary arterial hypertension, apnea, and respiratory arrest, necessitating mechanical ventilation, making extubation impossible due to weakness of chest muscles
										Orthopedic complications	Limb functional limitation
										Spinal issues including stenosis, compression and associated pain	Compression of the cervicospinal canal
										Nervous system disorders	Delayed psychomotor development
										Others	Vesicostomy for neurogenic bladder
Jesus et al. [28]	South America	Brazil	Charitable Health Association of Northeast Paraná Norospar, Umuarama, PR	1	16	Female	37.5	NR	Individual	Pregnant patient Cardio-respiratory-metabolic disorders	Hypotension and dyspnea
Jesus et al. [28]	South America	Brazil		1	16	Female	37.5	NR	Individual	Pain	Pain at birth
Medina et al. [62]	South America	Paraguay	Pediatric Service Hospital Central, Institute of Social Security. Pediatric Intensive Care Unit	1	2.6	Female	NR	NR	Individual	Cardio-respiratory-metabolic disorders	Hospitalized for serious respiratory symptoms, admitted to pediatric ICU with assisted ventilation
Medina et al. [62]	South America	Paraguay		1	2.6	Female	NR	NR	Individual	Spinal issues including stenosis, compression and associated pain	Medullary compression with decompressive surgery
Morais et al. [63]	South America	Brazil	Anesthesiology Department, Hospital Lifecenter, Belo Horizonte	1	47	Male	NR	NR	Individual	Spinal issues including stenosis, compression and associated pain	Thoracic kyphosis and severe lumbar lordosis, in addition to surgical scar on the lumbar region
Morais et al. [63]	South America	Brazil		1	47	Male	NR	NR	Individual	Others	Hemorrhoidectomy
Muratore and Viollaz [64]	South America	Argentina	Británico Hospital, Buenos Aires	1	21	Female	37.19	NR	Individual	Orthopedic complications	Bilateral femoral elongation surgery
Nascimento et al. [30]	South America	Brazil	Federal Hospital of Lagoa	1	51	Female	48.6	NR	Individual	Cardio-respiratory-metabolic disorders	Obesity and videolaparoscopic gastroplasty
Oliveira et al. [31]	South America	Brazil	Vera Cruz Hospital, Campinas / SP	1	33	Female	37.72	NR	Individual	Pregnant patient Pain others	Peritoneal plane pain at birth
Oliveira et al. [31]	South America	Brazil	Vera Cruz Hospital, Campinas / SP	1	33	Female	37.72	NR	Individual	Others	Hypothyroidism and difficulty in epidural anesthesia for cesarean
Palmira et al. [65]	Central America	Cuba	Gyneco-obstetric University Hospital "Ana Betancourt de Mora" Camagüey	1	20	Female	NR	NR	Individual	Pregnant patient Cardio-respiratory-metabolic disorders	Obesity, bronchial asthma, and respiratory difficulty during pregnancy
										Spinal issues including stenosis, compression and associated pain	Lumbar hyperlordosis
										Others	Twin pregnancy of 34 weeks preventing the patient to walk, to stand up, and no tolerance of supine decubitus; 10 days of hospitalization after complications at birth with cesarean section
Pimentel and Figueiredo [67]	South America	Brazil	Professor Edgard Santos University Hospital Complex, Salvador	1	73	Male	46.82	NR	Individual	Others	Surgical treatment of colon adenocarcinoma, after surgery the patient was diagnosed with septic shock with an abdominal focus which required a new surgical approach, deep venous thrombosis, 30th day of hospitalization
Posada et al. [68]	South America	Colombia	NR	1	0.8*	Male	NR	NR	Individual	Pregnant patient Cardio-respiratory-metabolic disorders	Apnea
										Spinal issues including stenosis, compression and associated pain	Cervicomedullary compression, no cephalic control, chronic cervical myelopathy; spinal decompression
										Nervous system disorders	Seizures, irritability
										Orthopedic complications	Abolished tendon reflexes
Rudas et al. [71]	South America	Colombia	NR	1	29	Female	33.9	NR	Individual	Pregnant patient NA^$	NA^$
Tosato and Alves [32]	South America	Brazil	Hospital da Sagrada Família, Salvador, Bahia	1	22	Female	NR	NR	Individual	Pregnant patient NA^$	NA^$
Uemura et al. [74]	South America	Brazil	Ambulatory of the Specialization Course in Pediatric Dentistry of the Union of Dentists of the State of São Paulo (SOESP)	1	4	Female	NR	NR	Individual	Psychosocial complications	Does not accept his physical condition or maintain contact with other children
Uemura et al. [74]	South America	Brazil		1	4	Female	NR	NR	Individual	Others	Anterior open bite
Werb et al. [33]	South America	Brazil	Getúlio Vargas State Hospital, Rio de Janeiro	1	79	Female	NR	NR	Individual	Others	Blood coagulation disorder with indication of suprapatellar amputation of lower limb

ACH: achondroplasia; ICU: intensive care unit; LATAM: Latin America; NR: not reported; NA: not applicable SD: standard deviation; BMI: body mass index
^¢Hypochromic microcytic anemia (hematocrit 30) with hypoferremia and hypoproteinemia
^*months
^#number
^$Case report study that did not evaluate any pre-defined burden outcomes
^£Comparative cross-sectional studies

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